Connective Tissue

Osteogenesis Imperfecta

Also known as brittle bone disease, OI, lobstein syndrome

Osteogenesis imperfecta is a heritable connective tissue disorder caused by defects in type I collagen synthesis, leading to abnormally fragile bones that fracture with minimal or no trauma. Clinical severity ranges from mild forms with rel

ORPHA:666 ↗Gene COL1A1Gene COL1A2Prevalence 1 in 10,000–20,000Onset Congenital or early childhoodGenetic — autosomal dominant (most), autosomal recessive (rare types)

12

studies recruiting now

as of 7 Sept 2026

93

studies registered in total

as of 7 Sept 2026

11

countries with a recruiting site

as of 7 Sept 2026

29 Apr 2026

most recent study posted

among recruiting studies

Recruiting trials

Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.

See all 12 recruiting studies

Where recruiting studies are running

Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.

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Patient organisations

Osteogenesis Imperfecta FoundationPatient association
Visit website ↗

Registry: OIF Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.

About Osteogenesis Imperfecta

Osteogenesis imperfecta is a heritable connective tissue disorder caused by defects in type I collagen synthesis, leading to abnormally fragile bones that fracture with minimal or no trauma. Clinical severity ranges from mild forms with relatively few fractures to lethal perinatal forms with extreme skeletal fragility and pulmonary insufficiency. All types share deficient or structurally abnormal collagen as the underlying molecular defect.

Common clinical features

Recurrent low-trauma or spontaneous bone fracturesBlue or grey scleraeShort stature and skeletal deformityDentinogenesis imperfecta (brittle, discoloured teeth)Progressive sensorineural or conductive hearing lossJoint hypermobility and ligamentous laxityKyphoscoliosis

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Treatments being studied

1 approved treatment and 12 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Approved: Teriparatide (Bonsity)
Phase 3Denosumab (Jubbonti)
Phase 3Risedronate Sodium (Actonel)
Phase 3Setrusumab
Phase 3Pamidronate Disodium (Aredia)
Phase 3Somatropin (Genotropin)
Phase 3Zoledronic Acid (Aclasta)
Phase 1Busulfan (Busilvex)
Phase 1Romosozumab (Evenity)

+ 4 more in development

Before you apply

Things trial teams commonly ask about for Osteogenesis Imperfecta. Not eligibility rules; those are set by each study.

  • Document fracture history and DEXA bone mineral density results before enrolling — most trials require baseline densitometry and a minimum fracture count in the prior 12 months.
  • Bisphosphonate use is a common exclusion criterion; confirm washout periods and current medication regimen with the trial coordinator.
  • Type classification (I–V or molecular subtype) is often required; ensure genetic confirmation of COL1A1/COL1A2 pathogenic variant is on file.

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).